We used the information from the Online Mendelian Inheritance in Man(OMIM) database. PKU is
ID number 261600 and can be found at: http://www.sanger.ac.uk:80/srs5/
Thompson, McInnes, Willard. Thompson & Thompson Genetics in Medicine. 5th ed. Philadelphia: W.B.
Saunders Company, 1991.
Mellor R, Young I. Emerey's Elements of Medical Genetics. 10th ed. Edinburgh: Churchill
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DiLella A, Marvit J, Brayton K, Woo S. An amino-acid substitution
involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
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Superti-Furga A, Steinmann B, Doc G, Gitzelmann R. Maternal
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References from 'The Biochemical Defect and it's effect'
Bowden J, McArthur C. Possible biochemical model for phenylketonuria.
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References from 'Diagnosis and Treatment'
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Eisensmith R, Woo S. Gene therapy for
phenylketonuria. European Journal of Paediatrics. 1996; 155(suppl.1):S16-S19.
References from 'PKU in the Population'
Eisensmith R, Woo S. Updated listing of haplotypes at the human phenylalanine
hydroxylase(PAH) locus. American Journal of Human Genetics. 1992; 51: 1445-1448.
Eisensmith et al. Multiple origins for phenylketonuria in Europe. American Journal
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Stuhrmann et al. Haplotype analysis of the phenylalanine hydroxylase gene in Turkish
phenylketonuria families. Clinical Genetics. 1989; 36: 117-121.
Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations
of newborn infants. Pediatrics. 1963; 32: 338-348.
Hofman et al. Phenylketonuria in US Blacks: molecular analysis of the phenylalanine
hydroxylase gene. American Journal of Human Genetics. 1991; 48: 791-798.
Cohen et al. Phenylketonuria in Jews. Lancet. 1961; 1: 344-345.
Dianzani I. et al. Haplotype distribution and molecular defects at the phenylalanine
hydroxylase locus in Italy. Human Genetics. 1999; 86(1): 69-72.
Tyfield et al. Identification o fthe haplotype pattern associated with the mutant PKU
allele in the Gypsy population of Wales. Journal of Medical Genetics. 1989; 26: 499-503.
Woolf L. The heterozygote advantage in phenylketonuria. American Journal of Human Genetics. 1986; 38: 773-775.
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